Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis

• Status: Withdrawn
• Trial end date: 2015-11-06
• Target enrollment: 0
• Participant gender: All

Summary

Background:

-(Degree)ystinosis is an inherited disease. If not treated correctly, it can cause muscle wasting and weakness and kidney damage. Researchers want to learn if growth hormone (GH) can help people with cystinosis.

Objective:

• To learn if GH treatment can slow or reverse muscle wasting and improve muscle strength in people with cystinosis.

Eligibility:

• People 18 and older who are already enrolled in protocol 78-HG-0093.

Design:

• Participants will be admitted to the clinic for eight 3 4 day visits, mostly four months apart.

• At each visit, participants will have a history and physical exam and give urine and blood samples.

• At month 0 or 13, participants will take tests that will be repeated at their 12- or 25-month visit:

• They will have an eye exam, medical consultations, and strength and movement tests.

• They will complete questionnaires.

• They may have tests of heart activity and lung function.

• They will have ultrasound imaging of their arm and hand muscles. They will have a scan of their legs while lying in a magnetic resonance imaging machine (a big metal cylinder). They will have a DEXA bone scan (two X-ray beams measure body composition). They will also swallow barium while X-ray imaging records the throat muscles.

• Participants will be randomly assigned to either receive or not receive GH for the first 12 months. Then, at month 13, if they received GH, they will switch for the next 12 months.

• Participants will take GH as a daily injection. They will be taught how to give the injections.

• Phase: Phase 1/Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: National Human Genome Research Institute (NHGRI)
• Treatments: Hormones

Criteria

• INCLUSION CRITERIA:

• Age 18-70 years, either gender

• Diagnosis of nephropathic cystinosis confirmed by leucocyte cystine levels

• Evidence of muscle involvement such as decrease of muscle mass, weakness or EMG findings and/or documented abnormal swallowing study and PFT results

• Ability to travel to the NIH Clinical Research Center for admissions

• Ability to consent

• Compliant with cysteamine treatment regimen

• Availability of local medical follow-up

ENCLUSION CRITERIA:

• Not able to self administer daily subcutaneous injections, or not able to identify a family member/caregiver to administer them to you.

• Age <18

• Psychiatric illness or neurological disease that interferes with compliance or communication with health care personnel

• Current malignancy or history of malignancy

• Uncontrolled hypertension (blood pressure >180 systolic or >95 diastolic)

• Poor controlled hyperglycemia (fasting blood glucose level >160)

• Serum creatinine level >1.8 mg/dL

• Pregnancy

Children are excluded because the critical issues of dosage and safety can be answered in adults, and because children with cystinosis are rarely affected with the symptoms of myopathy. Patients with chronic renal failure, treated with hemodialysis will not be excluded from the study, as GH is not contraindicated for such patients. Patients received renal transplants are not excluded from the study as GH treatment are not a contraindication for such patients. Enrolled patients must be able to travel to the NIH in case adverse events occur locally after discharge from the NIH Clinical Research Center. Other medical exclusions will help to avoid the spurious assignation of side effects to rhGH.