Research survey for rare disease patients and their families about impacts of COVID‑19

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 or take the survey.

Number of surveys completed, by state. People with rare diseases from all over the country have participated in the survey.
Number of surveys completed, by date completed. Over 3,500 people have responded so far, we hope that 5,000 people who live with rare diseases will complete the survey.
Survey respondents have many different rare diseases. The bubble plot shows respondents with diagnoses studied by individual consortia or research teams within the Rare Diseases Clinical Research Network. The names of the consortia with 50 or more completed surveys are reported in the plot. Find a complete list of consortia here.
Ten most reported diseases by people who have completed the survey. Rare diseases are not rare — an estimated 30 million people in the United States are affected by rare diseases.
Survey respondents have many different rare diseases. This table provides a list of all the diseases reported by people who have completed the survey.
Number of Patients Completing Survey by Diagnosis As of
DiagnosisNo. Patients
22q13 Deletion syndrome; Phelan-McDermid Syndrome; SHANK3 deletion/mutation36
ALG13 Congenital Disorder of Glycosylation2
Acute Intermittent Porphyria18
Adrenoleukodystrophy and Adrenomyeloneuropathy12
Aicardi-Goutieres Syndrome6
Alpers syndrome2
Alpha-1 antitrypsin deficiency8
Amyotrophic Lateral Sclerosis (ALS)190
Amyotrophic Lateral Sclerosis-Frontotemporal Dementia (ALS-FTD)8
Arginase Deficiency (Hyperargininemia)1
Argininosuccinate Synthetase Deficiency (Citrullinemia)5
Argininosuccinic Lyase Deficiency (Argininosuccinic Aciduria)7
Autoimmune Pulmonary Alveolar Proteinosis (aPAP)19
Batten disease1
Behcet's Disease30
Birt-Hogg-Dube Syndrome (BHD)1
Blepharospasm1
Brittle Bone Disorder1
Bronchiectasis7
CHARGE Syndrome4
CPEO: Chronic Progressive External Ophthalmoplegia12
Carbamyl Phosphate Synthetase (CPS) Deficiency1
Carnitine acylcarcarnitine carnitine translocase (CACT) deficiency1
Carnitine palmitoyltransferase 2 (CPT2) deficiency5
Cerebral Cavernous Malformations (CCM)4
Cervical Dystonia8
Charcot Marie Tooth Disease CMT1A15
Charcot Marie Tooth Disease CMT1B1
Charcot Marie Tooth Disease CMT2A4
Charcot Marie Tooth Disease CMT41
Charcot Marie Tooth Disease CMT4J1
Charcot Marie Tooth Disease CMTX3
Chronic Granulomatous Disease7
Citrullinemia II1
Complex I Deficiency3
Complex III Deficiency1
Cystic Fibrosis78
Cystinosis3
Cytomegalovirus4
Danon disease2
Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia (DIPNECH)1
Duchenne muscular dystrophy1
Dystonia4
Encephalopathy3
Eosinophilic Colitis (EC)3
Eosinophilic Esophagitis (EoE)148
Eosinophilic Gastritis (EG)3
Eosinophilic Gastroenteritis (EGE)14
Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss)7
Erythropoietic Protoporphyria13
FOXG1 mutation5
Fabry Disease14
Fatty Acid Oxidation Disorder2
Focal and segmental glomerulosclerosis2
GM1-Gangliosidosis types I/II/III3
Gastrointestinal Disease5
Gaucher disease3
Generalized Dystonia6
Granulomatosis with Polyangiitis (Wegener's) (GPA)8
Hereditary Hemorrhagic Telangiectasia (HHT) - Brain Arteriovenous Malformation (BAVM)2
Hereditary Pulmonary Alveolar Proteinosis (hPAP)1
Hereditary spastic paraplegia (HSP)73
Hermansky-Pudlak Syndrome (HPS)1
Heterotaxy (aka left/right isomerism1
Hunter syndrome6
Hurler syndrome5
Hypereosinophilic Syndrome2
I-cell disease1
Idiopathic Bronchiectasis15
IgA Vasculitis (Henoch-Schonlein purpura)2
KSS: Kearns-Sayre syndrome11
Krabbe disease1
LHON1
LHON-plus2
Leigh syndrome11
Limb Dystonia1
Long chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency5
Lymphangioleiomyomatosis (LAM)57
MERRF: Myoclonus Epilepsy Ragged-red Fibers1
Maroteaux-Lamy syndrome2
Maternally inherited Leigh syndrome (MILS)1
Medium chain acylCoA dehydrogenase (MCAD) deficiency11
Meige Syndrome1
Membranous nephropathy1
Metachromatic leukodystrophy1
Microscopic Polyangiitis (MPA)1
Mitochondrial DNA Depletion Syndrome4
Mitochondrial Disease88
Mitochondrial encephalopathy lactic acidosis with stroke-like episodes (MELAS)13
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)4
Morquio syndrome3
Mucolipidosis Type IV1
Mucopolysaccharidoses (MPS)14
Multiple Deletions of Mitochondrial DNA1
Multiple Respiratory Chain Enzyme Deficiencies1
Myasthenia Gravis588
N-Acetylglutamate Synthase (NAGS) Deficiency1
NARP: Neuropathy8
NGLY1 Deficiency1
Neuropathy4
Niemann-Pick disease3
Nontuberculous Mycobacterium (NTM) Pulmonary Disease9
Northern Epilepsy1
Ocular Myasthenia21
Ornithine Transcarbamylase (OTC) Deficiency10
Ornithine Translocase Deficiency (HHH Syndrome)2
Osteogenesis Imperfecta (all types)20
Other Dystonias3
Other known Charcot Marie Tooth (CMT) Peripheral Neuropathy6
Other unknown Charcot Marie Tooth (CMT) Peripheral Neuropathy3
PMM2 Congenital Disorder of Glycosylation12
PTEN Hamartoma Tumor Syndrome1
Peripheral Neuropathy5
Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorder)3
Phenylalanine hydroxylase deficiency (PKU)3
Pompe Disease2
Porphyria3
Porphyria Cutanea Tarda5
Primary Ciliary Dyskinesia (PCD)82
Primary Immune Deficiency56
Primary Lateral Sclerosis (PLS)27
Pycnodysostosis1
Pyruvate Dehydrogenase Complex Deficiencies (PDCD)9
Rett Syndrome - Typical/Classic25
SANDO: Sensory Ataxia Neuropathy4
Sandhoff disease1
Sanfilippo syndrome A5
Sanfilippo syndrome C3
Secondary Pulmonary Alveolar Proteinosis (sPAP)2
Sjogren-Larsson Syndrome2
Spasmodic Dysphonia1
Sturge-Weber Syndrome (SWS) - Leptomeningeal Angiomatosis5
Takayasu's Arteritis (TAK)2
Tuberous Sclerosis Complex (TSC)3
Turner Syndrome14
Urea Cycle Disorder5
Variegate Porphyria4
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency4
Wolman Disease1
X-Linked Protoporphyria2
Other / My rare disease is not in the list1175
Missing532