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. We hope that 5,000 people who live with rare diseases will complete the survey by July 31, 2020.
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/mutation42
AID: Aminoglycoside-Induced Deafness1
ALG13 Congenital Disorder of Glycosylation2
Acute Intermittent Porphyria21
Adrenoleukodystrophy and Adrenomyeloneuropathy9
Alexander Disease2
Alpers syndrome1
Alpha-1 antitrypsin deficiency7
Amyotrophic Lateral Sclerosis (ALS)33
Amyotrophic Lateral Sclerosis-Frontotemporal Dementia (ALS-FTD)1
Argininosuccinate Synthetase Deficiency (Citrullinemia)5
Argininosuccinic Lyase Deficiency (Argininosuccinic Aciduria)4
Autoimmune Pulmonary Alveolar Proteinosis (aPAP)16
Batten disease1
Behcet's Disease26
Blepharospasm2
Brain Vascular Malformation1
Brittle Bone Disorder1
CHARGE Syndrome3
CPEO: Chronic Progressive External Ophthalmoplegia6
Carbamyl Phosphate Synthetase (CPS) Deficiency1
Carnitine acylcarcarnitine carnitine translocase (CACT) deficiency1
Carnitine palmitoyltransferase 2 (CPT2) deficiency3
Cerebral Cavernous Malformations (CCM)1
Cervical Dystonia7
Charcot Marie Tooth Disease CMT1A7
Charcot Marie Tooth Disease CMT2A2
Charcot Marie Tooth Disease CMTX1
Chronic Granulomatous Disease6
Citrullinemia II1
Complex I Deficiency4
Cystic Fibrosis73
Cystinosis4
Cytomegalovirus5
Danon disease2
Dystonia4
Encephalopathy3
Eosinophilic Colitis (EC)4
Eosinophilic Esophagitis (EoE)110
Eosinophilic Gastritis (EG)3
Eosinophilic Gastroenteritis (EGE)9
Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss)1
Erythropoietic Protoporphyria12
Fabry Disease12
Fatty Acid Oxidation Disorder2
Focal and segmental glomerulosclerosis1
GM1-Gangliosidosis types I/II/III3
Gastrointestinal Disease1
Gaucher disease2
Generalized Dystonia6
Granulomatosis with Polyangiitis (Wegener's) (GPA)5
Hereditary Hemorrhagic Telangiectasia (HHT) - Brain Arteriovenous Malformation (BAVM)2
Hereditary Pulmonary Alveolar Proteinosis (hPAP)1
Hereditary spastic paraplegia (HSP)12
Hermansky-Pudlak Syndrome (HPS)1
Hunter syndrome5
Hurler syndrome2
Hypereosinophilic Syndrome1
Hyperimmunoglobulinemia D with Periodic Fever Syndrome1
I-cell disease1
Idiopathic Bronchiectasis19
IgA Vasculitis (Henoch-Schonlein purpura)1
KSS: Kearns-Sayre syndrome9
Krabbe disease1
Leigh syndrome6
Long chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency7
Lymphangioleiomyomatosis (LAM)61
Lysosomal Disease1
MERRF: Myoclonus Epilepsy Ragged-red Fibers1
Maroteaux-Lamy syndrome3
Maternally inherited Leigh syndrome (MILS)1
Medium chain acylCoA dehydrogenase (MCAD) deficiency7
Meige Syndrome1
Microscopic Polyangiitis (MPA)1
Mitochondrial DNA Depletion Syndrome2
Mitochondrial Disease53
Mitochondrial encephalopathy lactic acidosis with stroke-like episodes (MELAS)9
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)2
Morquio syndrome4
Mucolipidosis Type IV1
Mucopolysaccharidoses (MPS)17
Multiple Respiratory Chain Enzyme Deficiencies1
Myasthenia Gravis234
N-Acetylglutamate Synthase (NAGS) Deficiency1
NARP: Neuropathy9
NGLY1 Deficiency1
Neuropathy4
Niemann-Pick disease4
Nontuberculous Mycobacterium (NTM) Pulmonary Disease8
Ocular Myasthenia10
Ornithine Transcarbamylase (OTC) Deficiency8
Ornithine Translocase Deficiency (HHH Syndrome)2
Osteogenesis Imperfecta (all types)17
Other Dystonias5
Other known Charcot Marie Tooth (CMT) Peripheral Neuropathy11
Other unknown Charcot Marie Tooth (CMT) Peripheral Neuropathy1
PGM1 Congenital Disorder of Glycosylation1
PMM2 Congenital Disorder of Glycosylation12
PTEN Hamartoma Tumor Syndrome1
Peripheral Neuropathy5
Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorder)3
Pompe Disease5
Porphyria3
Porphyria Cutanea Tarda6
Primary Ciliary Dyskinesia (PCD)70
Primary Immune Deficiency57
Primary Lateral Sclerosis (PLS)5
Pyruvate Dehydrogenase Complex Deficiencies (PDCD)4
Rare Lung Disease3
Rett Syndrome - Typical/Classic1
SANDO: Sensory Ataxia Neuropathy4
Sandhoff disease1
Sanfilippo syndrome A6
Sanfilippo syndrome C5
Secondary Pulmonary Alveolar Proteinosis (sPAP)4
Severe Combined Immunodeficiency (SCID)1
Sjögren-Larsson Syndrome3
Sturge-Weber Syndrome (SWS) - Leptomeningeal Angiomatosis6
Takayasu's Arteritis (TAK)2
Tay-Sachs disease1
Tuberous Sclerosis Complex (TSC)4
Turner Syndrome22
Urea Cycle Disorder3
Variegate Porphyria4
Vasculitis1
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency6
X-Linked Protoporphyria2
alpha-Mannosidosis types I / II2
Other / My rare disease is not in the list1120
Missing667