Research survey for rare disease patients and their families about impacts of COVID‑19
Our Survey Is Now Closed
The RDCRN research survey for rare disease patients and their families about impacts of COVID‑19 is now closed. If you completed our survey, thank you for your participation. If you chose to share your contact information, we may follow up with you in the future with additional study opportunities and to learn more about the ongoing impact of COVID-19 on your life. We are working to compile survey results and will share those on this website when available.
The Rare Diseases Clinical Research Network (RDCRN) is conducting a study to help researchers understand the impacts of COVID-19 on the rare diseases community. This dashboard displays interim results from the study. It will be updated frequently. Learn more about this study.
| Diagnosis | No. Patients |
|---|---|
| 22q13 Deletion syndrome; Phelan-McDermid Syndrome; SHANK3 deletion/mutation | 36 |
| ALG13 Congenital Disorder of Glycosylation | 3 |
| Acute Intermittent Porphyria | 27 |
| Adrenoleukodystrophy and Adrenomyeloneuropathy | 21 |
| Aicardi-Goutieres Syndrome | 7 |
| Alexander Disease | 2 |
| Alpers syndrome | 3 |
| Alpha-1 antitrypsin deficiency | 10 |
| Amyotrophic Lateral Sclerosis (ALS) | 197 |
| Amyotrophic Lateral Sclerosis-Frontotemporal Dementia (ALS-FTD) | 8 |
| Arginase Deficiency (Hyperargininemia) | 1 |
| Argininosuccinate Synthetase Deficiency (Citrullinemia) | 5 |
| Argininosuccinic Lyase Deficiency (Argininosuccinic Aciduria) | 8 |
| Autoimmune Pulmonary Alveolar Proteinosis (aPAP) | 19 |
| Batten disease | 1 |
| Behcet's Disease | 30 |
| Birt-Hogg-Dube Syndrome (BHD) | 1 |
| Blepharospasm | 1 |
| Brittle Bone Disorder | 1 |
| Bronchiectasis | 8 |
| Bruck Syndrome | 1 |
| CDKL5 mutation | 1 |
| CHARGE Syndrome | 4 |
| CPEO: Chronic Progressive External Ophthalmoplegia | 12 |
| Carbamyl Phosphate Synthetase (CPS) Deficiency | 1 |
| Carnitine acylcarcarnitine carnitine translocase (CACT) deficiency | 1 |
| Carnitine palmitoyltransferase 2 (CPT2) deficiency | 6 |
| Cerebral Cavernous Malformations (CCM) | 4 |
| Cervical Dystonia | 11 |
| Charcot Marie Tooth Disease CMT1A | 17 |
| Charcot Marie Tooth Disease CMT1B | 1 |
| Charcot Marie Tooth Disease CMT2A | 4 |
| Charcot Marie Tooth Disease CMT4 | 1 |
| Charcot Marie Tooth Disease CMT4J | 1 |
| Charcot Marie Tooth Disease CMTX | 3 |
| Chronic Granulomatous Disease | 8 |
| Citrullinemia II | 1 |
| Complex I Deficiency | 3 |
| Complex III Deficiency | 1 |
| Cystic Fibrosis | 89 |
| Cystinosis | 5 |
| Cytomegalovirus | 17 |
| Danon disease | 2 |
| Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia (DIPNECH) | 1 |
| Duchenne muscular dystrophy | 4 |
| Dystonia | 4 |
| Encephalopathy | 3 |
| Eosinophilic Colitis (EC) | 4 |
| Eosinophilic Esophagitis (EoE) | 183 |
| Eosinophilic Gastritis (EG) | 5 |
| Eosinophilic Gastroenteritis (EGE) | 16 |
| Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss) | 7 |
| Erythropoietic Protoporphyria | 19 |
| FOXG1 mutation | 5 |
| Fabry Disease | 16 |
| Fatty Acid Oxidation Disorder | 2 |
| Focal and segmental glomerulosclerosis | 2 |
| GM1-Gangliosidosis types I/II/III | 3 |
| Gastrointestinal Disease | 6 |
| Gaucher disease | 3 |
| Generalized Dystonia | 6 |
| Granulomatosis with Polyangiitis (Wegener's) (GPA) | 9 |
| Hereditary Coproporphyria | 2 |
| Hereditary Hemorrhagic Telangiectasia (HHT) - Brain Arteriovenous Malformation (BAVM) | 12 |
| Hereditary Pulmonary Alveolar Proteinosis (hPAP) | 1 |
| Hereditary spastic paraplegia (HSP) | 73 |
| Hermansky-Pudlak Syndrome (HPS) | 1 |
| Heterotaxy (aka left/right isomerism | 2 |
| Hunter syndrome | 6 |
| Hurler syndrome | 5 |
| Hypereosinophilic Syndrome | 2 |
| I-cell disease | 1 |
| Idiopathic Bronchiectasis | 15 |
| IgA Vasculitis (Henoch-Schonlein purpura) | 2 |
| KSS: Kearns-Sayre syndrome | 11 |
| Krabbe disease | 2 |
| LHON | 1 |
| LHON-plus | 2 |
| Leigh syndrome | 11 |
| Leukoencephalopathy | 3 |
| Limb Dystonia | 1 |
| Long chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency | 5 |
| Lymphangioleiomyomatosis (LAM) | 58 |
| MERRF: Myoclonus Epilepsy Ragged-red Fibers | 1 |
| Maroteaux-Lamy syndrome | 2 |
| Maternally inherited Leigh syndrome (MILS) | 1 |
| Medium chain acylCoA dehydrogenase (MCAD) deficiency | 11 |
| Meige Syndrome | 1 |
| Membranous nephropathy | 1 |
| Metachromatic Leukodystrophy | 7 |
| Metachromatic leukodystrophy | 1 |
| Microscopic Polyangiitis (MPA) | 1 |
| Mitochondrial DNA Depletion Syndrome | 4 |
| Mitochondrial Disease | 91 |
| Mitochondrial encephalopathy lactic acidosis with stroke-like episodes (MELAS) | 15 |
| Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) | 4 |
| Morquio syndrome | 3 |
| Mucolipidosis Type IV | 1 |
| Mucopolysaccharidoses (MPS) | 14 |
| Multiple Deletions of Mitochondrial DNA | 1 |
| Multiple Respiratory Chain Enzyme Deficiencies | 1 |
| Myasthenia Gravis | 618 |
| N-Acetylglutamate Synthase (NAGS) Deficiency | 1 |
| NARP: Neuropathy | 8 |
| NGLY1 Deficiency | 1 |
| Neuropathy | 4 |
| Niemann-Pick disease | 3 |
| Nontuberculous Mycobacterium (NTM) Pulmonary Disease | 9 |
| Northern Epilepsy | 1 |
| Ocular Myasthenia | 21 |
| Ornithine Transcarbamylase (OTC) Deficiency | 12 |
| Ornithine Translocase Deficiency (HHH Syndrome) | 2 |
| Osteogenesis Imperfecta (all types) | 21 |
| Other Dystonias | 3 |
| Other known Charcot Marie Tooth (CMT) Peripheral Neuropathy | 6 |
| Other unknown Charcot Marie Tooth (CMT) Peripheral Neuropathy | 3 |
| PMM2 Congenital Disorder of Glycosylation | 15 |
| PTEN Hamartoma Tumor Syndrome | 1 |
| Peripheral Neuropathy | 5 |
| Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorder) | 3 |
| Phenylalanine hydroxylase deficiency (PKU) | 4 |
| Pompe Disease | 3 |
| Porphyria | 5 |
| Porphyria Cutanea Tarda | 7 |
| Primary Ciliary Dyskinesia (PCD) | 82 |
| Primary Immune Deficiency | 59 |
| Primary Lateral Sclerosis (PLS) | 27 |
| Pycnodysostosis | 1 |
| Pyruvate Dehydrogenase Complex Deficiencies (PDCD) | 9 |
| Rare Lung Disease | 5 |
| Rett Syndrome - Typical/Classic | 31 |
| SANDO: Sensory Ataxia Neuropathy | 4 |
| Sandhoff disease | 1 |
| Sanfilippo syndrome A | 5 |
| Sanfilippo syndrome C | 3 |
| Secondary Pulmonary Alveolar Proteinosis (sPAP) | 2 |
| Severe Combined Immunodeficiency (SCID) | 1 |
| Sjogren-Larsson Syndrome | 2 |
| Spasmodic Dysphonia | 1 |
| Sturge-Weber Syndrome (SWS) - Leptomeningeal Angiomatosis | 5 |
| Takayasu's Arteritis (TAK) | 2 |
| Tuberous Sclerosis Complex (TSC) | 3 |
| Turner Syndrome | 14 |
| Urea Cycle Disorder | 5 |
| Variegate Porphyria | 8 |
| Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency | 5 |
| Wolman Disease | 1 |
| X-Linked Protoporphyria | 2 |
| X-linked hypercalciuric nephrolithiasis | 1 |
| Other / My rare disease is not in the list | 1256 |
| Missing | 581 |