Research Groups

Diseases Researched:

• Behavioral variant frontotemporal dementia (bvFTD)
• Corticobasal degeneration (CBD)
• Corticobasal syndrome (CBS)
• Frontotemporal dementia with amyotrophic lateral sclerosis (FTD/ALS)
• Frontotemporal lobar degeneration (FTLD)
• Nonfluent variant primary progressive aphasia (nfvPPA)
• Primary progressive aphasia (PPA)
• Progressive supranuclear palsy (PSP)
• Pure akinesia with gait freezing (PAGF)
• Semantic variant primary progressive aphasia (svPPA)

Diseases Researched:

• Angelman syndrome
• Rett syndrome
• Prader-Willi syndrome

About the ARPWSC

Rett syndrome is now being studied by the Rett syndrome, MECP2 Duplications, & Rett-related Disorders Consortium.

For information on Prader-Willi syndrome, please see tab below.

For more information on Angelman syndrome, please contact:

Lynne M. Bird, MD
Office: 216-444-9017
Fax: 216-636-2498
Email: lbird@rchsd.org

URL: www.angelman.org and www.cureangelman.org

Diseases Researched:

• Autoimmune autonomic ganglionopathy
• Baroreflex failure
• Congenital autonomic disorders
• Congenital norepinephrine deficiency due to CYB561 mutations
• Dopamine beta hydroxylase deficiency
• Familial autonomic ganglionopathy
• Familial dysautonomia
• Lewy body disease
• Multiple system atrophy
• Norepinephrine transporter deficiency
• Parkinson's disease with autonomic failure
• Pure autonomic failure
• Takotsubo syndrome

Diseases Researched:

• Aplastic anemia
• Myelodysplastic syndromes
• Paroxysmal nocturnal hemoglobinuria (PNH)
• Large granular lymphocyte (LGL) leukemia
• Single lineage Ctopenias:
  • Pure red cell aplasia
  • Amegakaryocytic thrombocytopenic purpura
  • Autoimmune neutropenia

For more information, please contact:

John Pellecchia, MS
Administrator
Department of Translational Hematology and Oncology Research
Taussig Cancer Institute
Cleveland Clinic
9500 Euclid Avenue/Desk R40
Cleveland, OH44195
Office: 216-444-9017
Fax: 216- 636-2498
Email: pellecj@ccf.org

For Patient Advocacy, Education & Referral Contact:

Leigh Clark
Patient Educator
Aplastic Anemia & MDS International Foundation, Inc.
Office: 800-747-2820
Fax:410-867-4560

Email: clark@aamds.org

About ChiLDREN:

The Cholestatic Liver Disease Consortium (CLiC) is now part of ChiLDREN, the Childhood Liver Disease Research and Education Network. The new and expanded network combines CLiC and the Biliary Atresia Research Consortium (BARC), as well as new studies on cystic fibrosis liver disease. This consolidation seeks to facilitate the discovery of new diagnostics, etiologic, and treatment options for children with rare liver diseases, and those who undergo liver transplantation, and to train the next generation of investigators in rare pediatric liver diseases.

Diseases Researched:

• Alagille syndrome
• Alpha-1-antitrypsindeficiency
• Bile acid synthesis and metabolism defects
• Biliary atresia
• Cystic fibrosis liver disease
• Idiopathic neonatal hepatitis
• Mitochondrial hepatopathies
• Progressive familial intrahepatic cholestasis

For more information, please contact:

Joan M. Hines, MPH
Children's Hospital Colorado
Section of Pediatric Gastroenterology/Hepatology/Nutrition
13123 East 16th Avenue, B290
Aurora, Colorado 80045
Phone: 720-777-2598
Fax: 720-777-7351
Email: joan.hines@childrenscolorado.org

URL: www.childrennetwork.org

Diseases Researched:

• Bronchiolitis obliterans
• Chronic graft versus host disease
• Cutaneous sclerosis
• Late acute graft versus host disease

For more information, please contact:

Kate Chilson
PO Box 19024
FHCRC
Seattle, WA 98109-1024
Office: 206-667-6069
Fax: 206-667-4336
Email: chronicGVHDstudies@fredhutch.org

Diseases Researched:

• Andersen-Tawil syndrome
• Episodic ataxias
• Non-dystrophic myotonic disorders

For more information, please contact:

Kimberly Hart, MA
Sr Information Analyst
FOR-DMD Contracts and Regulatory Manager

Room 2101
University of Rochester Medical Center
Neuro-Central Admin Research
Channelopathy and Muscle Study Projects
265 Crittenden Blvd
CU 420669
Rochester, NY 14642-0669

Office: 585-275-3767
Fax: 585-276-2056
Email: Kim_Hart@urmc.rochester.edu

Diseases Researched:

• Spinocerebellar ataxia 1(SCA1)
• Spinocerebellar ataxia 2(SCA2)
• Spinocerebellar ataxia 3(SCA3/Machado Joseph disease/MJD)
• Spinocerebellar ataxia 6(SCA6)

Research Studies:

For more information on the clinical study: Natural History of and Genetic Modifiers in Spinocerebellar Ataxias, please visit ClinicalTrials.gov: 

clinicaltrials.gov/ct2/show/NCT01060371

For more information, please contact:

Dr. Tetsuo Ashizawa, MD
ashizawa@ufl.edu

Dr. S.H. Subramony, MD
s.subramony@neurology.ufl.edu

University of Florida
100 S Newell Dr, L3-100
Gainesville, FL 32611

URL: For information regarding future ataxia research, please visit the National Ataxia Foundation (NAF) website www.ataxia.org

Dystonia Coalition (DC)

Grant number: U54 NS116025-09

Principal Investigator: Hyder Jinnah, MD, PhD

Lead Institution: Emory University

Diseases Studied

Focal dystonia

• Cervical dystonia (spasmodic torticollis)
• Blepharospasm/Meige syndrome (craniofacial)
• Laryngeal dystonia (spasmodic dysphonia)
• Limb dystonia

Segmental dystonia

Multifocal dystonia

About the DC

Since its launch in 2009, the Dystonia Coalition has engaged 58 clinical centers in North America, Australia, Europe, and Asia. The academic centers in the Dystonia Coalition all have a special interest in dystonia research, as well as expertise in its diagnosis and treatment of all forms of dystonia. We therefore expect many patients to come to these centers for both research opportunities and expert clinical care. The Dystonia Coalition welcomes patients to come for either or both.

Advice and Accomplishments from the DC

Advice and Accomplishments from Our PAG: Dystonia Medical Research Foundation

Prior Research Studies

• Dystonia Coalition Projects-3 (DCP3): Natural History; Objective Measures; Biobank; Patient-Centered Outcomes
• Diagnostic and Rating Tools for Blepharospasm

Research Publications

Our clinical trials have generated valuable insights and advanced the search for meaningful treatments for the diseases we study. These findings are captured and shared through our research publications.

Contact Information for DC

Hyder Jinnah, MD, PhD 

DC was previously funded under grant number U54NS116025 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).

Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC)

Grant number: U54 NS115198-01

Principal Investigator: Eva Morava-Kozicz, MD, PhD

Lead Institution: Mount Sinai

Diseases Studied

• ALG12-congenital disorder of glycosylation
• ALG13-congenital disorder of glycosylation
• ALG3-congenital disorder of glycosylation
• ALG6-congenital disorder of glycosylation
• ALG8-congenital disorder of glycosylation
• ATP6AP1-congenital disorder of glycosylation
• ATP6AP2-congenital disorder of glycosylation
• COG5-congenital disorder of glycosylation (COG5-CDG)
• DDOST-congenital disorder of glycosylation
• DHDDS-congenital disorder of glycosylation
• DPAGT1-congenital disorder of glycosylation
• EDEM3-congenital disorder of glycosylation
• FUT8-congenital disorder of glycosylation
• GALNT2-congenital disorder of glycosylation
• GMPPA-congenital disorder of glycosylation
• GMPPB-congenital disorder of glycosylation (GMPPB-CDG)
• MAN1B1-congenital disorder of glycosylation
• MAN2B2-congenital disorder of glycosylation
• MOGS-congenital disorder of glycosylation
• MPI-congenital disorder of glycosylation
• NGLY1 deficiency
• NUS1–congenital disorder of glycosylation (NUS1-CDG)
• OGT-congenital disorder of glycosylation
• PGAP3-congenital disorder of glycosylation
• PGAP3-congenital disorder of glycosylation
• PIGA-congenital disorder of glycosylation
• PIGN-congenital disorder of glycosylation
• PIGT-congenital disorder of glycosylation
• PIGT-congenital disorder of glycosylation
• RFT1-congenital disorder of glycosylation
• SLC35A2-congenital disorder of gycosylation
• SLC35C1-congenital disorder of glycosylation
• SLC39A8-congenital disorder of glycosylation
• SRD5A3-congenital disorder of glycosylation
• SSR4-congenital disorder of glycosylation
• STT3A-congenital disorder of glycosylation
• TRAPPC11-congenital disorder of glycosylation (TRAPPC11-CDG)
• VMA21-congenital disorder of glycosylation

About the FCDGC

Congenital disorders of glycosylation (CDG) consist of more than 170 different inborn errors of metabolism at an estimated overall incidence of greater than 1 in 100,000. While these disorders were first genetically defined in the 1990s, there is no data available on their natural history, no comprehensive patient registry, no reliable screening tests for many types, and large gaps in clinical trial readiness. In response, a nationwide network of 13 sites total (including 9 clinical sites) was established to: define the natural history; validate patient-reported outcomes and share CDG knowledge; develop and validate new biochemical diagnostic techniques and therapeutic biomarkers to increase clinical trial readiness; and evaluate whether dietary treatments restore appropriate glycosylation to improve clinical symptoms and quality of life. Patients are key partners in research. The consortium leverages cross-disciplinary, team-based clinical science to address decades of unresolved questions; increase clinical trial readiness; advance and share knowledge, awareness, and education on CDG; and, most importantly, develop treatments and meet unmet patient needs.

Prior Research Studies

• 8401: Clinical and Basic Investigations into Congenital Disorders of Glycosylation
• 8402: A Phase II Randomized, Multicenter, Double-Blind, Placebo-Controlled Study Evaluating Effect of GLCNAC on Tear Production in Individuals with NGLY1-CDDG
• 8403: A Randomized, Double-blind, Placebo-controlled Study Evaluating Acetazolamide Efficacy in Ataxia in PMM2-CDG (NCT#04679389)

Research Publications

Our clinical trials have generated valuable insights and advanced the search for meaningful treatments for the diseases we study. These findings are captured and shared through our research publications.

Contact Information for FCDGC

Eva Morava-Kozicz, MD, PhD

FCDGC was previously funded under grant number U54NS115198 as a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the Office of Dietary Supplements (ODS).

Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)

Grant number: U54 HL096458-16

Principal Investigator: Stephanie Davis, MD

Lead Institution: University of North Carolina at Chapel Hill

Diseases Researched

• Cystic fibrosis
• Idiopathic bronchiectasis
• Nontuberculous mycobacterium pulmonary disease
• Primary ciliary dyskinesia
• Primary immunodeficiencies
• Pseudohypoaldosteronism

About the GDMCC

The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) focuses on several inherited and acquired disorders that cause thickened, infected secretions to accumulate in the upper and lower airways. Its work is conducted at eight clinical research sites across the United States and Canada. During the past 15 years, the consortium has made numerous advances that profoundly changed clinical practice, particularly in primary ciliary dyskinesia, a rare disease characterized by chronic sinopulmonary infections, middle ear involvement, laterality defects, and infertility. Novel insights into the genetics of primary ciliary dyskinesia have allowed consortium investigators to define clinical features, revolutionize diagnostics, and uncover genotype-phenotype relationships. Recently, the consortium has expanded its focus to include primary immunodeficiencies, a heterogeneous group of disorders that often share clinical features with primary ciliary dyskinesia. The overarching goals of this multidisciplinary effort are to define the genetic bases, pathophysiology and clinical manifestations; expand diagnostic capabilities; and identify therapeutic targets and trial endpoints in these rare, chronic respiratory diseases, ultimately improving outcomes for affected individuals.

Advice and Accomplishments from the GDMCC

Advice and Accomplishments from Our PAG: Primary Ciliary Dyskinesia Foundation

Prior Research Studies

• 5901: Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age
• 5902: Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests
• 5903: Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age
• 5904: Cross Sectional Characterization of Idiopathic Bronchiectasis
• 5905: Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes
• 5906: Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults
• 5907: Longitudinal study assessing the effect of respiratory exacerbations on quality of life and disease progression in primary ciliary dyskinesia
• 5908: Characterizing the Upper Airway Manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies

Research Publications

Our clinical trials have generated valuable insights and advanced the search for meaningful treatments for the diseases we study. These findings are captured and shared through our research publications.

Contact Information for GDMCC

Stephanie Davis, MD

GDMCC was previously funded under grant number U54HL096458 as a collaboration between NCATS and the National Heart, Lung, and Blood Institute (NHLBI).

Inherited Neuropathy Consortium (INC)

Grant number: U54 NS065712-12

Principal Investigator: Michael E. Shy, MD

Lead Institution: University of Iowa

Diseases Researched

• Charcot-Marie-Tooth disease type 1A
• Charcot-Marie-Tooth disease type 1B
• Charcot-Marie-Tooth disease type 2A
• Charcot-Marie-Tooth disease type 4
• Charcot-Marie-Tooth disease type X
• Neuropathy
• Other known Charcot-Marie-Tooth (CMT) peripheral neuropathy
• Other unknown Charcot-Marie-Tooth (CMT) peripheral neuropathy
• Peripheral neuropathy

About the INC

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. CMT, also known as hereditary motor and sensory neuropathy or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The Inherited Neuropathy Consortium (INC) is a network of researchers working to find the best treatments for CMT. Over the past few years, the INC has carried out studies, identified multiple genetic causes of CMT, begun testing possible markers for CMT, enrolled thousands of patients in its studies, trained young scientists in CMT research, and created a website that provides information about CMT to patients, families, and researchers. INC’s future goals include conducting further natural history studies to enable clinical trials, continuing the search for biological features (biomarkers) of disease, continuing to identify novel genetic causes and modifiers of CMT, and continuing to provide information to patients, their families, doctors, and researchers.

Prior Research Studies

• 6601: Natural History Evaluation of Charcot Marie Tooth Disease
• 6602: Genetics of CMT- Modifiers of CMT1A, New Causes of CMT
• 6603: Development of CMT Peds Scale for Children with CMT
• 6608: Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients
• 6610: Disability Severity Index (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
• 6611: Charcot-Marie-Tooth disease Infant Scale
• 6612: Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients with Inherited Neuropathies

Research Publications

Our clinical trials have generated valuable insights and advanced the search for meaningful treatments for the diseases we study. These findings are captured and shared through our research publications.

Contact Information for INC

Michael E. Shy, MD

INC was previously funded under grant number U54NS065712 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).

Lysosomal Disease Network (LDN)

Grant number: U54 NS065768-11

Principal Investigator: Chester B. Whitley, PhD, MD

Lead Institution: University Of Minnesota

About the LDN

Lysosomal disorders (LD) are a group of approximately 70 inherited conditions resulting from defects in lysosomal function, usually the deficiency of a single enzyme required for the metabolism of lipids, glycoproteins, or mucopolysaccharides. Collectively, LD are not especially rare, and estimates suggest that roughly 1 in 5,000 newborns will be affected with one identified LD. However, each disorder occurs with a much lower frequency and along a spectrum. For example, Fabry disease occurs in roughly 1 in 40,000 live births but MPS VII occurs in roughly 1 in 250,000. Although each LD results from a unique gene mutation, at the biochemical level they share a common characteristic: the inability to clear metabolic substrate from the lysosome. Presenting symptoms vary widely among—and sometimes within—the disorders and are modified by age of onset and severity. To date, approximately a dozen LD have therapeutic options and some conditions have more than one. Many of these therapies, however, remain sub-optimal and, apart from MPS I, approved therapies are not particularly effective in treating those LD with neurologic dysfunction. Originally founded in 2003 and funded by the NIH in 2008, the Lysosomal Disease Network (LDN) has striven to mirror the historic nature of LD by advancing innovative science dedicated to the explanation of the obstacles present to developing optimal therapies for all LD. To that end, the overarching themes of the LDN are clinical trial readiness, newborn screening, long-term outcomes, and global reach. The LDN advances these goals by conducting longitudinal clinical research projects focused on clarifying disease pathology along with cutting-edge pilot studies designed to promote innovation. The continuing educational efforts of the LDN center around the training of new fellows with an interest in LD.

Advice and Accomplishments from the LDN

Prior Research Studies

• 6703: Lysosomal Disease Network Longitudinal Study of the Mucopolysaccharidoses
• 6709: Lysosomal Disease Network Longitudinal Study of Pompe Disease
• 6730: Lysosomal Disease Network Longitudinal Study of Fabry Disease

Research Publications

Our clinical trials have generated valuable insights and advanced the search for meaningful treatments for the diseases we study. These findings are captured and shared through our research publications.

Contact Information for LDN

Chester B. Whitley, PhD, MD

LDN was previously funded under grant number U54NS065768 as a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).

Diseases Researched:

Disorders of Androgen Excess:

• 21-Hydroxylase deficiency
• 11b-Hydroxylase deficiency

Disorders of Androgen Synthesis or Action:

• Steroid 17a-hydroxylase deficiency
• Steroid 17b-hydroxysteroid dehydrogenase deficiency
• Androgen receptor defects
• 5a-reductase 2 deficiency
• Steroid 3b-hydroxysteroid dehydrogenase deficiency

Low-Renin Hypertension:

• Apparent Mineralocorticoid Excess

For more information, please contact:

Maria I. New, MD
Professor of Pediatrics
Pediatric Endocrinology
Director, Adrenal Steroid Disorders Program

The Mount Sinai School of Medicine
One Gustave L. Levy Place, Box 1198
New York, NY 10029-6574

Email: maria.new@mssm.edu

Porphyrias Consortium (PC)

Grant number: U54 DK083909-11

Principal Investigator: Robert J. Desnick, PhD, MD

Lead Institution: Icahn School of Medicine at Mount Sinai

Diseases Researched

• Acute intermittent porphyria (AIP)
• Hereditary coproporphyria (HCP)
• Variegate porphyria (VP)
• δ-aminolevulinate dehydratase deficiency porphyria (ADP)
• Congenital erythropoietic porphyria (CEP)
• Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP)
• Hepatoerythropoietic porphyria (HEP)
• Porphyria cutanea tarda (PCT)

About the PC

The porphyrias are a group of rare, inherited disorders, each caused by a deficiency with one of eight enzymes necessary to produce heme, an important component of hemoglobin and other proteins. The porphyrias are classified as either acute hepatic (liver) or cutaneous (skin); the former is characterized generally by acute attacks of severe abdominal pain accompanied by nausea, vomiting, and other symptoms, whereas the latter mainly includes blistering or burning in response to sun exposure. The rarity of these diseases has limited understanding of how they naturally progress and what other factors influence symptoms. The Porphyrias Consortium (PC) brings together experts at six main academic institutions, seven satellite sites, the United Porphyrias Association, and biopharmaceutical companies interested in improving diagnosis and treatment for these diseases. The PC aims to continue studying the characteristics and genetics of the porphyrias; promote development of new biomarkers to track the progression of these diseases; develop and test new treatments; and train the next generation of porphyria clinicians and researchers.

Advice and Accomplishments from the PC

Advice and Accomplishments from Our PAG: United Porphyrias Association

Prior Research Studies

• 7201: Longitudinal Study of the Porphyrias
• 7202: Mitoferrin-1 Expression in Erythropoietic Protoporphyria
• 7203: A double-blind, randomized, placebo-controlled, parallel group trial on the efficacy and safety of Panhematin^TM in the treatment of acute attacks of porphyria
• 7205: Measuring the Effects of Isoniazid Treatment on Erythrocyte and Plasma Protoporphyrin IX Concentration in Patients with Erythropoietic Protoporphyria
• 7206: Therapeutic Studies in Porphyria Cutanea Tarda
• 7207: Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
• 7208: Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria
• 7209: Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias
• 7210: Newer Direct-Acting Anti-Viral Agents as Sole Therapy of Porphyria Cutanea Tarda in Subjects with Chronic Hepatitis C
• 7211: Effect of Oral Cimetidine in the Protoporphyrias
• 7213: Identification of Acute Intermittent Porphyria Modifying Genes

Research Publications

Our clinical trials have generated valuable insights and advanced the search for meaningful treatments for the diseases we study. These findings are captured and shared through our research publications.

Contact Information for PC

Robert J. Desnick, PhD, MD

PC was previously funded under grant number U54DK083909 as a collaboration between NCATS and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).

Diseases Researched:

• Prader-Willi syndrome

For more information, please contact:

Beverly P. Giordano, ARNP
Clinical Research Coordinator
Division of Pediatric Genetics
Department of Pediatrics
University of Florida

Office: 352-294-5280
Email: bgiordano@peds.ufl.edu

Primary Immune Deficiency Treatment Consortium (PIDTC)

Grant number: U54 AI082973-11

Principal Investigator: Jennifer M. Puck, MD

Lead Institution: UCSF Benioff Children's Hospital

Diseases Researched

• Chronic granulomatous disease
• Primary immune deficiency
• Primary immune regulatory disorders
• Severe combined immunodeficiency
• Wiskott-Aldrich syndrome

About the PIDTC

The Primary Immune Deficiency Treatment Consortium (PIDTC) was established in 2009 to study and define optimal treatments for rare genetic disorders of the immune system, collectively known as primary immunodeficiency diseases. The PIDTC includes 47 immunology and transplantation centers throughout the United States and Canada as well as six patient advocacy groups. In its first nine years, the PIDTC has studied clinical features and outcomes following hematopoietic cell transplantation (HCT), gene therapy (GT), and enzyme replacement therapy (ERT) for patients with severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome (WAS), and chronic granulomatous disease (CGD). Primary immunoregulatory disorders (PIRD) were recently added for the current funding cycle. All these diseases were chosen because they are life-threatening and difficult to treat, often requiring HCT for survival. Because no single center follows enough affected individuals to encompass the full spectrum of these disorders, the consortium has been essential to define their natural history and perform robust statistical assessments to address the impact of patient-related variables, such as genotypes and infections, as well as treatment-related variables on clinical outcomes. PIDTC contributions to understanding pathogenesis and defining which treatments produce optimal survival and quality of life have been published in over 100 papers to date. The PIDTC is working to strengthen its infrastructure for multicenter clinical trials so as to apply new knowledge about these primary immunodeficiencies to achieve advances in care, with the goal of improving the lives of people living with these rare medical conditions.

Advice and Accomplishments from the PIDTC

Prior Research Studies

• 6901: A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders
• 6902: A Retrospective and Cross - Sectional Analysis of Patients Treated for SCID (1968-2010)
• 6903: Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995
• 6904: Analysis of Patients Treated for Wiskott-Aldrich Syndrome Since January 1, 1990
• 6906: Primary Immune Regulatory Disorders (PIRD): Longitudinal Study of Clinical Presentation, Treatment and Outcomes
• 6907: Severe Combined Immune Deficiency: Prospective and Longitudinal Study of Genotypes, Management and Outcomes
• 6908: Analysis of Autoinflammation in Chronic Granulomatous Disease Patients Undergoing Hematopoietic Cell Transplantation or Gene Therapy
• 6909: Neurodevelopmental Outcomes Following Treatment for Severe Combined Immunodeficiency (SCID)
• C-SIDE: Conditioning SCID Infants Diagnosed Early

Research Publications

Our clinical trials have generated valuable insights and advanced the search for meaningful treatments for the diseases we study. These findings are captured and shared through our research publications.

Contact Information for PIDTC

Jennifer M. Puck, MD

PIDTC was previously funded under grant number U54AI082973 as a collaboration between NCATS and the National Institute of Allergy and Infectious Diseases (NIAID).

Diseases Researched:

• CYP24A1 associated disease
• APRT deficiency (Dihydroxyadeninuria)
• Cystinuria
• Dent disease
• Lowe syndrome
• Primary hyperoxaluria

Diseases Researched:

• Alpha-1 antitrypsin deficiency
• Autoimmune pulmonary alveolar proteinosis (aPAP)
• Birt-Hogg-Dube syndrome (BHD)
• Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH)
• GLA/lymphangiomatosis
• Hereditary pulmonary alveolar proteinosis (hPAP)
• Hermansky-Pudlak syndrome (HPS)
• Lymphangioleiomyomatosis (LAM)
• Pulmonary alveolar microlithiasis (PAM)
• Pulmonary langerhans cell histiocytosis (PLCH)
• Secondary pulmonary alveolar proteinosis (sPAP)

For more information, please contact:

Brenna Carey, MS, PhD
Program Manager
Division of Pulmonary Biology and Neonatology
3333 Burnet Avenue
Cincinnati, Ohio 45229
Phone: 513-636-8916
Fax: 513-636-3723
Email: Brenna.Carey@cchmc.org

Diseases Researched:

• Antiphospholipid antibody syndromes (APS)
• Heparin-induced thrombocytopenia (HIT)
• Paroxysmal nocturnal hemoglobinuria (PNH)
• Catastrophic antiphospholipid antibody syndrome (thrombotic storm)
• Thrombotic thrombocytopenic purpura (TTP)

For more information, please contact:

Sharon Hall
Research Analyst
Hemostasis and Thrombosis Research Center
Duke University Health System
P.O. Box 3422 DUMC
315 Trent Dr. Rm 273
Durham, NC 27710

Lab: 919-668-6329
Office: 919-681-9565
Fax: 919-681-6531
Email: Sharon.hall@duke.edu

URL: http://htc.medicine.duke.edu

Diseases Researched:

• CDKL5 mutation
• FOXG1 mutation
• MECP2 Duplications
• MECP2 mutations not associated with Rett syndrome (non-RTT MECP2 mutations)
• Rett Syndrome — Typical/Classic

For more information, please contact:

Jane Lane, RN, BSN
Consortium Project Manager
University of Alabama at Birmingham
Phone: 205-934-1130
Fax: 205-975-6330
Email: jlane@uab.edu

Diseases Researched:

• Mucoepidermoid carcinoma (MEC)
• Adenoid cystic carcinoma (ACC)
• Adenocarcinoma salivary duct carcinoma (AC)

For more information, please contact:

Adel El-Naggar MD, PhD
University of Texas MD Anderson Cancer Center
1515 Holcombe Boulevard, Unit 85, G1.3561A
Houston, TX 77030-4009
Fax: 713-792-5532
Email: anaggar@mdanderson.org

Diseases Researched:

• Cerebrotendinous xanthomatosis hyperimmunoglobulinemia D with periodic fever syndrome
• CK syndrome
• CK syndrome & CHILD syndrome (congenital hemidysplasia w/ ichthyosiform erythroderma & limb defects)
• Dolichol metabolism disorder
• Hyperimmunoglobulinemia D with periodic fever syndrome
• Methylsterol oxidase deficiency
• Mevalonate kinase deficiency
• Mevalonic aciduria
• Peroxisome biogenesis disorder (Zellweger spectrum disorder)
• Sitosterolemia
• Sjögren-Larsson syndrome
• Smith-Lemli-Opitz syndrome
• Sterol-C4-methyl oxidase deficiency (SC4MOL gene defect)
• Succinic semialdehyde dehydrogenase deficiency

Studies

• 7004: Sjögren-Larsson Syndrome (SLS): A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers - Sjögren-Larsson syndrome
• 7007: Effects of Fish Oil, Colesevelam, and Combination Therapy on Sterol Metabolism in Sitosterolemia - Sitosterolemia
• 7010: Quality of Life Survey in Zellweger Spectrum Disorder - Peroxisome Biogenesis Disorder (Zellweger spectrum disorder)

Vasculitis Clinical Research Consortium (VCRC)

Grant number: U54 AR057319-16 and U54 RR019497-05

Principal Investigator: Peter A. Merkel, MD, MPH

Lead Institution: University of Pennsylvania

Diseases Studied

• Aortitis
• Behçet's disease
• Central nervous system (CNS) vasculitis
• Cryoglobulinemic vasculitis
• Cutaneous vasculitis
• Drug-induced vasculitis (DIV)
• Eosinophilic granulomatosis with polyangiitis (Churg-Strauss) (CSS)
• Giant cell (temporal) arteritis (GCA)
• Granulomatosis with polyangiitis (Wegener's) (GPA)
• Idiopathic aortitis
• IgA vasculitis (Henoch-Schonlein purpura)
• Microscopic polyangiitis (MPA)
• Polyarteritis nodosa (PAN)
• Takayasu's arteritis (TAK)
• Urticarial vasculitis
• Other types of vasculitis

About the VCRC

Vasculitis refers to a group of rare diseases that involve inflammation of blood vessels, which disrupts blood flow and often causes damage to the body’s organs. The cause of most forms of vasculitis remains unknown, and treatments involve the use of strong medications that can have serious side effects. The Vasculitis Clinical Research Consortium (VCRC) is an international, multicenter clinical research infrastructure for the study of vasculitis. Established in 2003, the various projects of the VCRC have included more than 100 academic medical centers around the world dedicated to the study of vasculitis. The VCRC focuses on conducting clinical trials of new therapies for vasculitis, studying the genetics of these diseases, discovering new blood tests to help monitor and understand these diseases, conducting online research, and training young scientists in the study of vasculitis. The VCRC will continue its efforts to better understand and treat vasculitis by conducting new clinical trials and expanding and utilizing the VCRC Clinical Data Repository, the VCRC Biospecimen Repository, and the VCRC Tissue Repository. All of these activities involve a strong partnership with patients and advocacy groups.

Advice and Accomplishments from Our PAG: Vasculitis Foundation

Prior Research Studies

• 5506: Longitudinal Protocol for Eosinophilic granulomatosis with polyangiitis (Churg-Strauss)
• 5508: VCRC Longitudinal Study of Relapsing Polychondritis
• 5509: VCRC Observational Protocol for Vasculitis
• 5526: The Assessment of Prednisone In Remission Trial (TAPIR)
• 5527: Abatacept (CTLA4-Ig) for the Treatment of Relapsing, Non-Severe, Granulomatosis with Polyangiitis (Wegener's) (ABROGATE)
• 5562: A randomized multicenter study for isolated skin vasculitis (ARAMIS)
• 5564: Low Dose Naltrexone to Improve Physical Health in Patients with Vasculitis (LoDoNaVasc)

Research Publications

Our clinical trials have generated valuable insights and advanced the search for meaningful treatments for the diseases we study. These findings are captured and shared through our research publications.

Contact Information for VCRC

Peter A. Merkel, MD, MPH

VCRC was previously funded under grant number U54AR057319 and U54RR019497 as c collaboration between NCATS and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).