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CystinosisPhase 1/2NCT02124070

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

A Phase 1/2 study testing rh Growth Hormone in people with Cystinosis and Myopathy, run by National Human Genome Research Institute (NHGRI).

Withdrawn

Withdrawn. The study stopped before anyone enrolled.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages 18 to 70 years
Conditions the study is for
Cystinosis, Myopathy
What is being tested?
rh Growth Hormone
How many people
0 participants
Where
No sites listed yet
Study dates
26 Mar 2014to 6 Nov 2015
Phase
Phase 1/2
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 to 70 years
  • All sexes
  • No healthy volunteers
  • Adult, Older adult

Who may be able to join

  • 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
Show all 17Show fewer
  • 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.

Who cannot join

None listed.

About this study

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.

Read more

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.
Read the detailed description

Cystinosis is an autosomal recessive storage disorder due to defective transport of the amino acid cystine out of cellular lysosomes. Cystine accumulation leads to cellular dysfunction in most of organs and tissues. Available treatment with the cystine-depleting agent, cysteamine, can prevent or delay organ damage, including that of muscles. In poorly treated patients, however, a progressive vacuolar myopathy with muscle wasting beginning in the second decade of life significantly debilitates some patients. Muscle biopsy demonstrates prominent unrimmed vacuoles with small ring fibers but no evidence of endomysial inflammation. Plasma and muscle carnitine deficiency, impairing mitochondrial fatty acid metabolism, might also limit muscle energy production. Growth Hormone (GH) can potentially counter the muscle wasting of cystinosis patients. It has consistently induced anabolic effects in patients in malnourished or catabolic states, by enhancing the growth and development of bone, connective tissue, viscera, fat, and musculoskeletal muscles. GH, at doses of approximately 0.006 to 0.1 mg/kg/day, has proven safe and effective in HIV/AIDS wasting, parenteral nutrition-dependent short bowel syndrome, pediatric chronic kidney disease, and adult and pediatric GH-deficiency states. The current protocol is a randomized (to treatment or no treatment) crossover clinical trial to determine if GH (0.03 mg/kg/day) is beneficial for muscle wasting in cystinosis. Patients are examined at the NIH Clinical Research Center every 4 months for 2 years. Change in muscle mass will serve as the primary outcome parameter, and rhGH (Humatrope) will be provided by Eli Lilly. HumatropeR (somatropin) is currently approved by the FDA for:

  • Treatment of children with short stature or growth failure associated with growth hormone (GH) deficiency, Turner syndrome, idiopathic short stature, SHOX deficiency, and failure to catch up in height after small for gestational age birth.
  • Treatment of adults with either childhood-onset or adult-onset GH deficiency.
Conditions
Cystinosis, Myopathy
Being tested
rh Growth Hormone
Keywords
Cystinosis, Myopathy, Recombiant Growth Hormone
Medical subject headings
Cystinosis, Muscular Diseases

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • rh Growth HormoneDrug

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Increase in muscle mass and improve muscle strengths

    Measured: 12 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted28 Apr 2014 (estimated)
  2. Study start26 Mar 2014
  3. Primary completion6 Nov 2015
  4. Study completion6 Nov 2015

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase 1/2
Primary purpose
Treatment
Allocation
Randomised
Intervention model
Crossover
Enrolment
0 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT02124070
Sponsor's protocol ID
140101
Other IDs
14-HG-0101
Status last verified
6 Nov 2015
First submitted
25 Apr 2014
Last updated
20 Oct 2017
Results posted
No

Publications

  • Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med. 2007 Aug 21;147(4):242-50. doi: 10.7326/0003-4819-147-4-200708210-00006.

    PubMed 17709758

  • Markello TC, Bernardini IM, Gahl WA. Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med. 1993 Apr 22;328(16):1157-62. doi: 10.1056/NEJM199304223281604.

    PubMed 8455682

  • Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol. 2008 Jun;23(6):863-78. doi: 10.1007/s00467-007-0650-8.

    PubMed 18008091

Questions about this trial

What is this clinical trial studying?

A Phase 1/2 study testing rh Growth Hormone in people with Cystinosis and Myopathy, run by National Human Genome Research Institute (NHGRI).

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 17 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: withdrawn, as of the sponsor's last update on 20 Oct 2017. Status can change between updates, so confirm with the study contact before making plans.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this combined phase mean?

Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.

Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

The study was withdrawn before enrolling participants, so there are no results.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Increase in muscle mass and improve muscle strengths (time frame: 12 months). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT02124070, which also lists 3 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Oct 2017.

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