30 closest matches · ranked by relevance
Familial Dysautonomia
Primary: Change From Baseline of Forced Vital Capacity — 5.5; 4.7; 0.9 percentage change from baseline
Familial Dysautonomia
Primary: Composite Daily Score — 6.9; 9.7 units on a scale
Dysautonomia, Familial · Baroreflex Failure Syndrome
Primary: Number of Participants Who Reported Adverse Events Related to Study Drug — 0; 0; 0 Participants
Familial Amyloid Polyneuropathy · Familial Amyloidosis
Primary: Neurologic Impairment Score + 7 (NIS+7) — 8.2; 26.3; 6.2; 12.5 units on a scale — p=<0.001
Interstitial Lung Disease · Idiopathic Pulmonary Fibrosis
Primary: Number of Participants With ILA (Interstitial Lung Abnormalities) — 85; 13 Participants
Familial Hyperlipidemia
Primary: Familial Hypercholesterolemia (FH) Determination for Family Members of School Children With Elevated Cholesterol and Documented FH Variant — 3; 8 participants
Congenital Sucrase-isomaltase Deficiency (CSID)
Primary: Prevalence of CSID Genetic Variants — 27; 0 Participants
Congenital Hyperinsulinism · Hyperinsulinism · Persistent Hyperinsulinemic Hypoglycemia of Infancy
Primary: The Accuracy of FDOPA PET to Identify Focal Forms of Hyperinsulinism — 40; 6; 3; 46 Participants
Menkes Disease · Occipital Horn Syndrome
Primary: Treatment Related Adverse Events as Assessed by CTCAE v4.0 — 10; 6 adverse events
Friedreich Ataxia
Primary: Change in mFARS (Modified Friedreich's Ataxia Rating Scale) Score — 2.9; 4.9; 7.7; 2.2 units on a scale
Neurofibromatosis 1 · Neurofibroma, Plexiform
Primary: Median Time to Disease Progression — 13.2 Months
Familial Amyloid Polyneuropathy
Primary: Percentage of Participants With Response to Treatment as Measured by Neuropathy Impairment Score - Lower Limb (NIS-LL) at Month 18 — 45.3; 29.5 percentage of participants
Friedreich Ataxia
Primary: Change in Whole Blood Frataxin Levels — -1.5 percentage of baseline frataxin level — p=0.027
Small Fiber Neuropathy
Primary: AFI-intensity After Nociceptive Stimulation — 0.60; 0.25; 0.50 unitless
Fabry Disease
Primary: Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin — 2; 14; 5; 0 patients
Small Fiber Neuropathy · Idiopathic Peripheral Neuropathy
Primary: The Change in Nerve Fiber Density Between Visits 1 and 8. — 0.5; 0.6 fibers/mm
Functional Abdominal Pain
Primary: Number of Participants Who Complete Treatment — 22 Participants
Rare Diseases
Primary: Beck Anxiety Inventory — 10.4; 9.5; 11.1; 8.5 score on a scale — p=0.835
Small Fiber Neuropathy · Fabry Disease · Ehlers Danlos Syndrome
Primary: Number of Patients With Abnormal Electrochemical Skin Conductance in the Different Study Groups Who Have Clinical Symptoms Consistent With Small Fiber Polyneuropathy…
Neurofibromatosis Type 1 · Reading Disabilities
Primary: Change From Baseline in WJ-III Basic Reading Normative Update (Woodcock Johnson Psychoeducational Battery - 3rd Edition; WJ-III NU) Standard Score at 15 Hours — 13.50…
Alzheimer Disease
Primary: Return to Baseline Physical Function Based on the Barthel Index (Change From 2 Weeks Prior to Admission and Changes at Admission, Discharge, and 2 and 6 Months…
Neurofibromatosis 1
Primary: Mitochondrial Respiration Efficiency (as Measured by OCR). — 67.7167; 53.7000; 73.3358; 68.5789 picomole/minute — p=<0.01
22q13 Deletion Syndrome · Phelan-McDermid Syndrome
Primary: Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1 — 15.78; 11.22; 7.61; 9.70 score on a scale
Fibrous Dysplasia Of Bone
Primary: Proportion of Participants With Serum Phosphate Levels Within the Target Range at Week 48 — 1 Proportion of participant
Mucopolysaccharidosis (MPS)
Primary: Number of Treatment Emergent Serious Adverse Events (SAE) — 5; 3; 2 events
Congenital Hyperinsulinism (CHI) · Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI)
Primary: Accuracy of 18F-DOPA PET/CT Scans to Detect Focal Lesions in Children With Congenital Hyperinsulinism — 34; 10; 4; 52 cases
Postural Tachycardia Syndrome
Primary: C-peptide Levels After Oral Glucose Tolerance Test — 40.6; 23.2 pg/mL
Fragile X Syndrome
Primary: Contingency Naming Test (CNT) Performance Score — 37.05; 40.50; 66.94; 61.56 correct responses per minute
Inflammatory Bowel Disease · Glycogen Storage Disease Type Ia
Primary: Serologic, Genetic and Inflammatory Markers Consistent With Inflammatory Bowel Disease — 11 participants testing positive
Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) · Transthyretin Cardiomyopathy (TTR-CM) · Familial Amyloid Cardiomyopathy
Primary: Demographical Characteristics of Participants — 20; 11; 39; 19 participants